Variant report

Variant	rs34147627
Chromosome Location	chr5:112948161-112948162
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112947841..112948477-chr5:113785646..113786287,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10053341	0.81[ASN][1000 genomes]
rs10056194	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10065790	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10071684	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10072503	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10077431	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10078214	0.86[ASN][1000 genomes]
rs11241213	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13169748	0.84[EUR][1000 genomes]
rs13171630	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13174075	0.81[ASN][1000 genomes]
rs13182972	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13362189	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13436825	0.81[ASN][1000 genomes]
rs17331844	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17388260	0.85[ASN][1000 genomes]
rs17389165	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1816062	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2162841	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2914198	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972689	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972690	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33992630	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34324763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35093510	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35193208	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35926701	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35933960	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36023163	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66540465	0.83[EUR][1000 genomes]
rs6867579	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6871934	0.85[ASN][1000 genomes]
rs6872490	0.81[ASN][1000 genomes]
rs6879257	0.84[EUR][1000 genomes]
rs6883547	0.86[ASN][1000 genomes]
rs6890874	0.85[ASN][1000 genomes]
rs71577448	0.85[ASN][1000 genomes]
rs72792189	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7706721	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7708831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7718203	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8180416	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9326890	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9326891	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882721	chr5:112859994-112963488	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
2	esv2763910	chr5:112916398-112951827	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv1031336	chr5:112916398-112956588	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv4961	chr5:112945908-112991152	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv882725	chr5:112947050-112989901	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112944200-112949000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:112944400-112950000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:112944400-112950000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:112947600-112948200	Enhancers	Brain Angular Gyrus	brain
5	chr5:112947800-112948200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr5:112947800-112948200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr5:112947800-112948600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:112948000-112948200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr5:112948000-112948200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr5:112948000-112948200	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:112948000-112948200	Bivalent Enhancer	Primary T cells from cord blood	blood
12	chr5:112948000-112948200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
13	chr5:112948000-112948200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:112948000-112948200	Enhancers	Ovary	ovary
15	chr5:112948000-112948400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:112948000-112948400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr5:112948000-112948600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr5:112948000-112949000	Enhancers	Fetal Heart	heart
19	chr5:112948000-112949200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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